The $5 million pilot program, launched in collaboration with the American College of Medical Genetics and Genomics (ACMG) and New York State, is designed to set up, validate and conduct genetic screening in up to 100,000 infants born at 11 New York hospitals over a two-year period.
Offering it in a high birthrate state is expected to help demonstrate the medical and economical benefits of early screening — and, by extension, early treatment — in babies born with Duchenne, supporting newborn screening nationwide.
“It is believed that therapeutic interventions will be optimally effective the earlier they can be offered,” Pat Furlong, PPMD’s founding president and CEO, said in a press release. “The goal of PPMD and the Duchenne community [is] to help eliminate the diagnostic delay in Duchenne through a public health program that includes newborn screening,”
The program is being funded by PPMD with financial support from a number of biotech companies working to treat DMD, including PTC Therapeutics, Sarepta Therapeutics, PerkinElmer, Solid Biosciences, Wave Life Sciences, and Pfizer.
A steering committee comprised of representatives from health care professional groups and Duchenne stakeholder communities — including the American Academy of Pediatrics, the Centers for Disease Control & Prevention, the EveryLife Foundation for Rare Diseases, and the Genetic Alliance’s Expecting Health — is lending guidance.
Annie Kennedy, PPMD’s SVP of Legislation & Public Policy who is leading this effort, said that it involved “the expertise and input of experts and leaders within federal agencies, newborn screening advocacy groups, the broader newborn screening community, and the Duchenne community.”
PPMD has been working to build an infrastructure for newborn screening of Duchenne in the U.S. for the last five years, Furlong said, with the goal of compiling evidence of its benefits that might lead to programs being initiated nationwide. The Duchenne nonprofit group incorporated into its pilot effort the best practices of the Ohio State Newborn Screening Pilot program set up under Jerry Mendell, MD, which ended in 2012, and refined them to serve larger states like New York.
The Ohio State program screened 60,000 infants, and identified six newborns with Duchenne MD.
Infants whose screenings are positive for DMD will be evaluated by a neuromuscular specialist and monitored in collaboration with ACMG’s Newborn Screening Translational Research Network (NBSTRN).
“We are excited to contribute to this ground-breaking effort to determine the benefit of screening newborns for Duchenne,” said Amy Brower, MD, associate project director of ACMG’s NBSTRN.
“During this pilot, the NBSTRN will facilitate the collection of longitudinal health data from the clinicians caring for the diagnosed newborns and enable the newborns’ parents to share their experiences during the pilot,” Brower added.
Data generated will be reviewed by the federal Health & Human Services Advisory Committee on Heritable Disorders in Newborns and Children, which will determine whether the data support Duchenne being nominated for addition to the Recommended Universal Screening Program (RUSP).
“We are exceptionally grateful to the families, experts, and partners who have helped us to get to where we are today – our first newborn screened for Duchenne,” Furlong said.
Within the National Duchenne Newborn Screening Initiative, PPMD has also developed care standards for newborns and ethical considerations for Duchenne newborn screening, and published A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy.